ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) (rs148615702)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506671 SCV000603381 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000533802 SCV000652827 likely benign Spinal muscular atrophy, distal, autosomal recessive, 5 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000506671 SCV000704127 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173846 SCV001336962 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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